Khaberni - An international research team from the University of Exeter and the Free University of Brussels has discovered a rare and previously unknown genetic type of diabetes that affects newborns, resulting from a mutation in a gene that directly affects the body's ability to produce insulin.
The researchers explained that genetic changes in a gene known as (TMEM167A) are the main cause of this type of neonatal diabetes, which typically appears within the first six months of life, according to (scitechdaily).
The research included examining six children suffering from diabetes from birth and accompanying neurological disorders such as epilepsy and small head size, where genetic analysis revealed they all shared mutations in the same gene, confirming its crucial role in the disease's development.
The results of the examination showed that all these children share changes affecting the same gene, TMEM167A, which forms a clear indicator of the direct relationship between this gene and the onset of the disease and this genetic link, alongside the accompanying neurological symptoms, prompted the researchers to delve deeper into understanding the function of this gene and its role in the body.
The researchers used advanced techniques including stem cells and CRISPR gene editing technology to simulate the disease, showing that a lack of this gene's function leads to chronic cellular stress that ends with the death of pancreatic Beta cells and loss of their ability to secrete insulin.
They confirmed that this discovery represents an important step towards understanding the complex biological mechanisms of diabetes, as it provides a model for studying dysfunction within human beta cells, paving the way for developing more precise diagnostic strategies and treatments in the future.
According to statistics from the World Health Organization, diabetes affects about 589 million people worldwide, and over (85%) of neonatal diabetes cases are due to inherited gene mutations.
